Investigation of NUDT15 Allele Frequency in a Group of Iranian Population

Negar  Sarhangi; Mandana  Hasanzad; Fatemeh  Rouhollah; Shekoufeh  Nikfa; Farshad  Sharifi; Negar  Niknam

doi:10.18502/ijdl.v25i2.20223

Negar Sarhangi Medical Genomics Research Center, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran
Mandana Hasanzad Personalized Medicine Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran
Fatemeh Rouhollah Medical Genomics Research Center, Tehran Medical Sciences, Islamic Azad University, Tehran, Iran
Shekoufeh Nikfa Endocrinology and Metabolism Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran
Farshad Sharifi Elderly Health Research Center, Endocrinology and Metabolism Population Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran
Negar Niknam Department of Pharmacoeconomics and Pharmaceutical Administration, Faculty of Pharmacy, Tehran University of Medical Sciences, Tehran, Iran

DOI: https://doi.org/10.18502/ijdl.v25i2.20223

Keywords: Personalized Medicine, Precision Medicine, Pharmacogenomics, Pharmacogenetics, Genetic Variation, Allele Frequency, Iran

Abstract

Background: Pharmacogenomics (PGx), as a growing field of personalized medicine, aims to optimize the efficacyand safety of medications by studying the association between germline genetic variations and drug responses. Thepresent cross-sectional study aims to evaluate the allele frequency of the NUDT15 genetic variant in the Iranianpopulation to provide insights into personalized treatment decisions in the Iranian population.

Methods: A representative sample set of 1142 unrelated healthy Iranian individuals aged 18 and older genotyped usingthe Infinium Global Screening Array-24 BeadChip.

Results: We identified a pharmacogenetic variant with minor allele frequency (MAF) ≥1% among the present studiedpopulation which may explain the substantial variability in drug response phenotypes among different populations

Conclusion: The results of our study revealed significant genetic variation among Iranian populations that couldsignificantly influence clinical decision-making. This study shows the frequency pattern of the effective variant ofNUDT15 in determining the phenotype in Iranian population.